Canonical Allele Identifier: CA2751993
Community Standard Title: NM_003722.5(TP63):c.20G>T (p.Arg7Leu)
Gene: TP63 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.189631535G>T , CM000665.2:g.189631535G>T GRCh38
NC_000003.11:g.189349324G>T , CM000665.1:g.189349324G>T GRCh37
NC_000003.10:g.190832018G>T NCBI36
NG_007550.1:g.5109G>T
NG_007550.2:g.5109G>T
NG_007550.3:g.39790G>T

Transcript Alleles

HGVS Amino-acid Change
NM_003722.5:c.20G>T MANE Select NP_003713.3:p.Arg7Leu
ENST00000264731.8:c.20G>T MANE Select ENSP00000264731.3:p.Arg7Leu
NM_001114978.1:c.20G>T NP_001108450.1:p.Arg7Leu
NM_001114978.2:c.20G>T NP_001108450.1:p.Arg7Leu
NM_001114979.1:c.20G>T NP_001108451.1:p.Arg7Leu
NM_001114979.2:c.20G>T NP_001108451.1:p.Arg7Leu
NM_001329144.1:c.20G>T NP_001316073.1:p.Arg7Leu
NM_001329144.2:c.20G>T NP_001316073.1:p.Arg7Leu
NM_001329148.1:c.20G>T NP_001316077.1:p.Arg7Leu
NM_001329148.2:c.20G>T NP_001316077.1:p.Arg7Leu
NM_001329964.1:c.56+34297G>T NP_001316893.1:n.56+34297G>T
NM_001329964.2:c.56+34297G>T NP_001316893.1:n.56+34297G>T
NM_003722.4:c.20G>T NP_003713.3:p.Arg7Leu
ENST00000264731.7:c.20G>T ENSP00000264731.3:p.Arg7Leu
ENST00000320472.9:c.20G>T ENSP00000317510.5:p.Arg7Leu
ENST00000392460.7:c.20G>T ENSP00000376253.3:p.Arg7Leu
ENST00000418709.6:c.20G>T ENSP00000407144.2:p.Arg7Leu
ENST00000440651.6:c.20G>T ENSP00000394337.2:p.Arg7Leu
ENST00000486398.1:n.120G>T
XM_005247843.2:c.20G>T XP_005247900.1:p.Arg7Leu
XM_005247844.3:c.11+260G>T XP_005247901.1:n.11+260G>T
XM_005247846.2:c.20G>T XP_005247903.1:p.Arg7Leu
XM_011513251.1:c.59+8218G>T XP_011511553.1:n.59+8218G>T
XM_011513252.1:c.56+34297G>T XP_011511554.1:n.56+34297G>T
XM_011513253.1:c.23+64640G>T XP_011511555.1:n.23+64640G>T